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Results 1 - 4 of 4 for Autosomal recessive congenital ichthyosis
  1. TGM1 gene 
    ... and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb; ... SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  2. ALOXE3 gene 
    ... Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/aloxe3 - Genetics
  3. ALOX12B gene 
    ... Hennies HC. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/alox12b - Genetics
  4. ABCA12 gene 
    ... ejd.2011.1638. Citation on PubMed Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [updated 2023 Apr 20]. In: ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics